Establishment of human induced pluripotent stem cells derived from skin cells of a patient with Dravet syndrome

Yuichi Kimura; Yasuyoshi Tanaka; Naoto Shirasu; Shin'ichiro Yasunaga; Norimichi Higurashi; Shinichi Hirose

doi:10.1016/j.scr.2020.101857

Establishment of human induced pluripotent stem cells derived from skin cells of a patient with Dravet syndrome

Stem Cell Res. 2020 Jun 15:47:101857. doi: 10.1016/j.scr.2020.101857. Online ahead of print.

Authors

Yuichi Kimura¹, Yasuyoshi Tanaka¹, Naoto Shirasu², Shin'ichiro Yasunaga², Norimichi Higurashi³, Shinichi Hirose⁴

Affiliations

¹ Research Institute for the Molecular Pathomechanisms of Epilepsy, Central Research Organization, Fukuoka University, Japan.
² Department of Biochemistry, Faculty of Medicine, Fukuoka University, Japan.
³ Department of Pediatrics, Jikei University School of Medicine, Japan.
⁴ Research Institute for the Molecular Pathomechanisms of Epilepsy, Central Research Organization, Fukuoka University, Japan; Department of Pediatrics, Faculty of Medicine, Fukuoka University, Japan. Electronic address: hirose@fukuoka-u.ac.jp.

PMID: 32599563
DOI: 10.1016/j.scr.2020.101857

Abstract

Dravet syndrome is known as an intractable infantile epilepsy caused by a heterozygous de novo mutation in SCN1A, with mutations being reported globally. In this study, we established 2 human induced pluripotent stem cell lines by expressing reprogramming factors, OCT3/4, SOX2, KLF4, L-MYC, LIN28 and p53 shRNA in the fibroblast skin cells of a patient with Dravet syndrome harboring the Y1102X pathogenic mutation in SCN1A. These cell lines showed pluripotency, ability for differentiation to the 3 germ layers, and normal karyotype.